Dataset of clinical, immunohistopathological and laboratory features of patients with MHC II deficiency suffering from enteropathy

Carsten Posovszky; Mehtap Sirin; Eva Jacobsen; Myriam Lorenz; Klaus Schwarz; Anjona Schmidt-Choudhury; Catharina Schütz; Manfred Hönig; Klaus-Michael Debatin; Ansgar Schulz; Peter Möller; Thomas F Barth

doi:10.1016/j.dib.2019.104446

Dataset of clinical, immunohistopathological and laboratory features of patients with MHC II deficiency suffering from enteropathy

Data Brief. 2019 Aug 28:26:104446. doi: 10.1016/j.dib.2019.104446. eCollection 2019 Oct.

Authors

Affiliations

¹ Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Eythstr. 24, 89075, Ulm, Germany.
² Institute for Transfusion Medicine, University of Ulm, 89081, Ulm, Germany.
³ Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Württemberg - Hessen, 89081, Ulm, Germany.
⁴ Department of Pediatrics and Adolescent Medicine, Ruhr University Bochum, 44791, Bochum, Germany.
⁵ Department of Pathology, University of Ulm, 89075, Ulm, Germany.

Abstract

Major histocompatibility complex class II (MHC II) is essential for adaptive immune response. We recently reported on disturbed adaptive mucosal immunity due to MHC II deficiency and prolonged enteropathy. Here, we share medical history, flow cytometric analysis of blood lymphocytes, immunohistopathology, and fecal analysis of seven genetically confirmed patients with MHC II deficiency suffering from enteropathy. Data on flow cytometric analysis of HLA-DR expression on monocytes and B cells before hematopoietic stem cell transplantation (HSCT) and after in-vitro stimulation is shown. The course of immune reconstitution after HSCT of MHC II deficient patients in comparison to severe combined immunodeficiency (SCID) patients is described. In addition, immunohistopathology illustrating CD4 and CD8 T cell infiltration, absence of B lymphocytes and plasma cells, and disturbed immunoglobulin expression in the gut as well as absent HLA-DR expression in the liver is shown. Furthermore, data from fecal analysis such as stool fat, nitrogen, and water fraction as well as faecal markers such as alpha-1-antitrypsin, pancreas specific elastase 1, eosinophilic protein X (EPX), and beta defensin 2 are presented. Altogether this data demonstrates the complex phenotype of MHC II deficiency. The data can be valuable for researchers interested in mucosal immunity. For further interpretation of the data presented in this article, please see the research article "Persisting enteropathy and disturbed adaptive mucosal immunity due to MHC class II deficiency" (Posovszky et al., 2019).

Keywords: Adaptive immunity; Enteropathy; HLA-DR; Hematopoietic stem cell transplantation; Intestinal epithelial cells; Invariant chain; MHC class II deficiency; Mucosal immunity.